表皮松解症精准医疗中的皮肤微生物组成和基因突变分析

IF 3 4区 医学 Q2 PHARMACOLOGY & PHARMACY Current drug targets Pub Date : 2024-04-03 DOI:10.2174/0113894501290512240327091531
Inna Syafarina, Maulida Mazaya, Ariani Indrawati, Sharfina Zahra Akbar, Rifki Sadikin, Caecilia Sukowati
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引用次数: 0

摘要

:大疱性表皮松解症(EB)是一种遗传性皮肤病,是一种罕见的遗传性疾病。这些疾病的共同特点是皮肤脆弱,会出现水疱和糜烂。其遗传方式为常染色体遗传,临床表现多种多样,给患者带来巨大的身体痛苦、严重的发病率和死亡率。尽管 EB 无法治愈,但由于其罕见性和复杂性,有效管理 EB 仍是一项特殊的挑战,有时甚至会对患者的生活造成深远影响。考虑到 EB 的治疗需要多学科合作,有时会因处理不当而导致 EB 患者病情恶化。因此,必须对 EB 进行更适当、更精确的治疗管理。医学和健康领域的先进技术进入了生物信息学时代。包括皮肤病治疗在内,基于全局信息学的方法旨在评估和处理更好的疾病管理和治疗。在这项工作中,我们回顾了有关实施基于全局组学技术的几种方法,包括遗传学、致病基因突变、皮肤微生物组学和 EB 元基因组学分析。此外,我们还重点介绍了元基因组学分析在 EB 精准医疗中的潜力方面的最新进展。
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Skin Microbial Composition and Genetic Mutation Analysis in Precision Medicine for Epidermolysis Bullosa
: Epidermolysis bullosa (EB) is an inherited skin disease representing a spectrum of rare genetic disorders. These conditions share the common trait that causes fragile skin, resulting in the development of blisters and erosions. The inheritance follows an autosomal pattern, and the array of clinical presentations leads to significant physical suffering, considerable morbidity, and mortality. Despite EB having no cure, effectively managing EB remains an exceptional challenge due to its rarity and complexity, occasionally casting a profound impact on the lives of affected individuals. Considering that EB management requires a multidisciplinary approach, this sometimes worsens the condition of patients with EB due to inappropriate handling. Thus, more appropriate and precise treatment management of EB is essentially needed. Advanced technology in medicine and health comes into the bioinformatics era. Including treatment for skin diseases, omics-based approaches aim to evaluate and handle better disease management and treatment. In this work, we review several approaches regarding the implementation of omics-based technology, including genetics, pathogenic mutation, skin microbiomics, and metagenomics analysis for EB. In addition, we highlight recent updates on the potential of metagenomics analysis in precision medicine for EB.
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来源期刊
Current drug targets
Current drug targets 医学-药学
CiteScore
6.20
自引率
0.00%
发文量
127
审稿时长
3-8 weeks
期刊介绍: Current Drug Targets aims to cover the latest and most outstanding developments on the medicinal chemistry and pharmacology of molecular drug targets e.g. disease specific proteins, receptors, enzymes, genes. Current Drug Targets publishes guest edited thematic issues written by leaders in the field covering a range of current topics of drug targets. The journal also accepts for publication mini- & full-length review articles and drug clinical trial studies. As the discovery, identification, characterization and validation of novel human drug targets for drug discovery continues to grow; this journal is essential reading for all pharmaceutical scientists involved in drug discovery and development.
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